Infants at Risk for Autism Spectrum Disorders or Language Delay

描述(由申请人提供)：自闭症谱系障碍(ASD)和特殊语言障碍(SLI)都是复杂的障碍，涉及语言的初级障碍，通常根据幼儿或学龄前阶段出现的行为症状进行诊断。双胞胎和家族研究已经证明ASD和SLI的遗传力估计都很高，这些研究有证据表明这些疾病之间存在重叠，这表明部分相同的病因。对于被诊断为自闭症和系统性红斑狼疮的儿童，结果有相当大的差异，特别是在语言和社交沟通障碍的严重程度上。拟议的探索性研究计划的主要目标是开发一种新的方法来确定6至12个月龄的自闭症和系统性红斑狼疮的风险的早期预测因素和语言和沟通发展的早期过程。建议对ASD和SLI的高危婴儿进行纵向前瞻性研究。将招募100名患有ASD(N=50)或SLI(N=50)的先证者的高风险婴儿兄弟姐妹，以及低风险兄弟姐妹对照组(N=30)，并在6至18个月大时进行ASD和语言延迟的临时评估。我们的目标是使用新颖的结构化父母数据收集方法，获取婴儿发育的密集家庭日记记录，包括婴儿的详细日记和录像带，这些日记和录像带将被编码，以应对早期声音、语言和社交行为的出现。这些日记将在6个月、12个月和18个月时得到以实验室为基础的标准评估。分析将侧重于将这两个高危兄弟群体相互比较，并与控制关键发育里程碑出现的时间和异常行为的存在进行比较。这项研究计划的发现将导致开发新的临床有用的方法来诊断和评估ASD和SLI的婴儿期，可以在社区环境中实施。早期诊断这些疾病的高风险被认为是改善ASD和SLI儿童预后的关键一步，因为这将为早期进入已知可导致更好结果的干预打开大门。

DESCRIPTION (provided by applicant): Autism spectrum disorders (ASD) and specific language impairment (SLI) are both complex disorders that involve primary impairments in language that are usually diagnosed on the basis of emerging behavioral symptoms during the toddler or preschool period. Twin and family studies have demonstrated high heritability estimates for both ASD and SLI and there is evidence from these studies for overlap among these disorders, suggesting partially shared etiology. For children diagnosed with ASD and SLI there is considerable variability in outcomes, especially in the severity of language and social-communication impairments. The main goal of the proposed exploratory research program is to develop a new methodological approach for identifying the earliest predictors of risk and early course of language and communication development for ASD and SLI between the ages of 6 and 12 months. A longitudinal prospective study of infants at high risk for ASD and SLI is proposed. 100 high risk infant siblings of probands with either ASD (N=50) or SLI (N=50), as well as low-risk sibling controls (N=30) will be recruited, and followed from 6 to 18 months of age, at which time provisional assessments of ASD and language delay will be conducted. Our goal is to acquire dense home-based diary records of the infants' development using novel structured parent data collection methods, including detailed diaries and video-tapes of the infants that will be coded for the emergence of early vocal, language and social-communicative behaviors. These diaries will be complemented by laboratory-based standard assessments at 6, 12 and 18 months. Analyses will focus on comparing the two high-risk sibling groups to one another and to the controls on the timing of emergence of key developmental milestones and the presence of unusual behaviors. The findings from this research program will lead to the development of new clinically useful methods for diagnosing and assessing ASD and SLI in infancy that could be implemented in community settings. Early diagnosis of high risk for these disorders is considered a crucial step in improving the prognosis for children with ASD and SLI, because this will open the doors for early entry into interventions that are known to lead to better outcomes.